Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.N279S
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EXO1

NM_130398.4:p.N279S

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.

Lozinski M et al.

Oncotarget, 2024

38227740 (PubMed )
Supplement: oncotarget-15-28551-s001.pdf

Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.

Mahmood K et al.

Gastroenterology, 2023

37453563 (PubMed )
Supplement: NIHMS1962932-supplement-1.pdf

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val5

Breast cancer-associated SNP rs72755295 is a cis-regulatory variation for human EXO1.

Shi Q et al.

Genetics and Molecular Biology, 2022

Family History of Colorectal or Esophageal Cancer in Barrett's Esophagus and Potentially Explanatory Genetic Variants.

Rubenstein JH et al.

Clinical and Translational Gastroenterology, 2020

Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.

Madi A et al.

European Journal of Cancer (oxford, England : 1990), 2018

DNA-damage-induced degradation of EXO1 exonuclease limits DNA end resection to ensure accurate DNA repair.

Tomimatsu N et al.

The Journal of Biological Chemistry, 2017

Significant association of the EXO1 rs851797 polymorphism with clinical outcome of ovarian cancer.

Shi T et al.

Oncotargets and Therapy, 2017

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 2016

Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.

Sokolenko AP et al.

Cancer Letters, 2015

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Michailidou K et al.

Nature Genetics, 2015

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315

DNA mismatch repair gene polymorphisms affect survival in pancreatic cancer.

Dong X et al.

The Oncologist, 2011

Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.

Yamamoto H et al.

Carcinogenesis, 2005

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.

Wu Y et al.

Gastroenterology, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."